Zobrazeno 1 - 10
of 240
pro vyhledávání: '"Lucia Valentino"'
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor:
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz:
https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
Autor:
Veria Vacchiano, Flavia Palombo, Danara Ormanbekova, Claudio Fiorini, Alessia Fiorentino, Leonardo Caporali, Andrea Mastrangelo, Maria Lucia Valentino, Sabina Capellari, Rocco Liguori, Valerio Carelli
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of a 71 years-old man diagnosed with ALS with atypic
Externí odkaz:
https://doaj.org/article/92dfbb44ead243a4850c6d5d82dcade9
Autor:
Nneka Southwell, Guido Primiano, Viraj Nadkarni, Nabeel Attarwala, Emelie Beattie, Dawson Miller, Sumaitaah Alam, Irene Liparulo, Yevgeniya I Shurubor, Maria Lucia Valentino, Valerio Carelli, Serenella Servidei, Steven S Gross, Giovanni Manfredi, Qiuying Chen, Marilena D'Aurelio
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 7, Pp 1-26 (2023)
Abstract Mitochondrial diseases are a heterogeneous group of monogenic disorders that result from impaired oxidative phosphorylation (OXPHOS). As neuromuscular tissues are highly energy‐dependent, mitochondrial diseases often affect skeletal muscle
Externí odkaz:
https://doaj.org/article/3ac8c9834e7f48439c744d6d9391fd6b
Autor:
Mariantonietta Capristo, Valentina Del Dotto, Concetta Valentina Tropeano, Claudio Fiorini, Leonardo Caporali, Chiara La Morgia, Maria Lucia Valentino, Monica Montopoli, Valerio Carelli, Alessandra Maresca
Publikováno v:
Molecular Medicine, Vol 28, Iss 1, Pp 1-18 (2022)
Abstract Background Myoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA (mtDNA) most frequently affecting the tRNA Lys gene at position m.8344A > G. Defective tRNA
Externí odkaz:
https://doaj.org/article/1040bcc673bc4eb08ec43beceb5b9ab6
Autor:
Alberto Terrin, Luca Bello, Maria Lucia Valentino, Leonardo Caporali, Gianni Sorarù, Valerio Carelli, Ferdinando Maggioni, Massimo Zeviani, Elena Pegoraro
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Recent scientific evidence suggests a link between migraine and brain energy metabolism. In fact, migraine is frequently observed in mitochondrial disorders. We studied 46 patients affected by mitochondrial disorders, through a headache-focu
Externí odkaz:
https://doaj.org/article/39b0a8fd519b467686fff36895d8a90a
Autor:
Laura Licchetta, Lorenzo Ferri, Chiara La Morgia, Corrado Zenesini, Leonardo Caporali, Maria Lucia Valentino, Raffaella Minardi, Daniela Fulitano, Lidia Di Vito, Barbara Mostacci, Lara Alvisi, Patrizia Avoni, Rocco Liguori, Paolo Tinuper, Francesca Bisulli, Valerio Carelli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 704-710 (2021)
Abstract The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxia, retinitis pigmentosa (NARP) due to mutations in the mitochondrial ATP6 gene and to correlate electroclinical featur
Externí odkaz:
https://doaj.org/article/e690895416d44998b922be907eb744e1
Autor:
Valentina Cesarano, Lucia Valentino
Publikováno v:
Formazione & Insegnamento, Vol 20, Iss 1 Suppl. (2022)
Lo scopo del seguente contributo è esplorare le potenzialità inclusive della Progettazione Universale per l’Apprendimento (UDL) e le sue implicazioni didattiche, riconoscendo l’ importanza di tale approccio nella formazione degli insegnanti di
Externí odkaz:
https://doaj.org/article/6f7e91fa5ab047a1885d1567bb124c47
Autor:
Natale Marzullo, Lucia Valentino
Publikováno v:
Formazione & Insegnamento, Vol 20, Iss 1 Suppl. (2022)
This work is intended to highlight the importance of sport and motor activity in general, and the impact they have in people’s lives. A toned and trained body is the only antidote to the predominant presence of technology and computer systems in pe
Externí odkaz:
https://doaj.org/article/f5b2acfdd0e24d278ca3674376097834
Autor:
Dario Ronchi, Changwei Liu, Leonardo Caporali, Daniela Piga, Hongzhi Li, Francesca Tagliavini, Maria Lucia Valentino, Maria Teresa Ferrò, Paola Bini, Li Zheng, Valerio Carelli, Binghui Shen, Giacomo Pietro Comi
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1893-1899 (2019)
Abstract The maintenance of mitochondrial DNA (mtDNA) relies on proteins encoded by nuclear genes. Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi‐ca
Externí odkaz:
https://doaj.org/article/625ed72fbf384f52b6d66860f8cca468
Autor:
Jelena Misic, Dusanka Milenkovic, Ali Al-Behadili, Xie Xie, Min Jiang, Shan Jiang, Roberta Filograna, Camilla Koolmeister, Stefan J Siira, Louise Jenninger, Aleksandra Filipovska, Anders R Clausen, Leonardo Caporali, Maria Lucia Valentino, Chiara La Morgia, Valerio Carelli, Thomas J Nicholls, Anna Wredenberg, Maria Falkenberg, Nils-Göran Larsson
Publikováno v:
Nucleic Acids Res
The in vivo role for RNase H1 in mammalian mitochondria has been much debated. Loss of RNase H1 is embryonic lethal and to further study its role in mtDNA expression we characterized a conditional knockout of Rnaseh1 in mouse heart. We report that RN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dcd16c7d756754674095ebb51a588ff
https://doi.org/10.1093/nar/gkac661
https://doi.org/10.1093/nar/gkac661